Source: ALL
Variant Gene N. diseases v DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Score vda EI vda N. PMIDs First Ref. Last Ref.
dbSNP: rs386833701
rs386833701
CLN3
1 1.000 0.120 16 28477739 stop gained C/A;G snv 4.0E-06 0.700 1.000 2 2004 2012
dbSNP: rs386833721
rs386833721
CLN3
1 1.000 0.120 16 28486663 non coding transcript exon variant C/A;G;T snv 4.5E-06; 1.3E-05 0.700 0
dbSNP: rs121434286
rs121434286
CLN3
3 0.882 0.120 16 28482500 stop gained C/A;T snv 2.4E-05 0.820 1.000 6 1997 2015
dbSNP: rs386833744
rs386833744
CLN3
2 0.925 0.160 16 28482173 missense variant C/A;T snv 2.0E-05 0.800 1.000 4 1997 2012
dbSNP: rs386833726
rs386833726
CLN3
1 1.000 0.120 16 28491558 stop gained C/A;T snv 2.8E-05 0.700 0
dbSNP: rs386833742
rs386833742
CLN3
1 1.000 0.120 16 28482199 splice acceptor variant C/A;T snv 0.700 0
dbSNP: rs386833730
rs386833730
CLN3
1 1.000 0.120 16 28486464 missense variant C/G snv 4.0E-06 0.810 1.000 5 1997 2012
dbSNP: rs386833699
rs386833699
CLN3
1 1.000 0.120 16 28482105 missense variant C/G snv 0.700 0
dbSNP: rs386833711
rs386833711
CLN3
1 1.000 0.120 16 28489285 splice region variant C/G snv 0.700 0
dbSNP: rs386833728
rs386833728
CLN3
1 1.000 0.120 16 28486577 splice donor variant C/G;T snv 0.700 1.000 2 1999 2015
dbSNP: rs1057516343
rs1057516343
CLN3
1 1.000 0.120 16 28491713 splice donor variant C/G;T snv 0.700 0
dbSNP: rs386833722
rs386833722
CLN3
1 1.000 0.120 16 28486651 splice acceptor variant C/G;T snv 0.700 0
dbSNP: rs386833723
rs386833723
CLN3
1 1.000 0.120 16 28486639 missense variant C/G;T snv 4.2E-06 0.700 0
dbSNP: rs386833695
rs386833695
CLN3
2 0.925 0.120 16 28482160 missense variant C/T snv 2.4E-05 2.1E-05 0.800 1.000 10 1997 2013
dbSNP: rs1057516267
rs1057516267
CLN3
1 1.000 0.120 16 28482326 splice donor variant C/T snv 0.700 0
dbSNP: rs1057517350
rs1057517350
CLN3
1 1.000 0.120 16 28482673 splice acceptor variant C/T snv 0.700 0
dbSNP: rs1555469089
rs1555469089
CLN3
1 1.000 0.120 16 28488663 splice acceptor variant C/T snv 0.700 0
dbSNP: rs1555469477
rs1555469477
CLN3
1 1.000 0.120 16 28491561 splice acceptor variant C/T snv 0.700 0
dbSNP: rs386833700
rs386833700
CLN3
1 1.000 0.120 16 28491502 stop gained C/T snv 4.0E-06 0.700 0
dbSNP: rs386833704
rs386833704
CLN3
1 1.000 0.120 16 28491477 splice region variant C/T snv 1.6E-05 1.4E-05 0.700 0
dbSNP: rs386833705
rs386833705
CLN3
1 1.000 0.120 16 28489387 splice acceptor variant C/T snv 4.2E-06 0.700 0
dbSNP: rs386833716
rs386833716
CLN3
1 1.000 0.120 16 28487662 missense variant C/T snv 4.0E-06 0.700 0
dbSNP: rs386833733
rs386833733
CLN3
1 1.000 0.120 16 28486449 missense variant C/T snv 0.700 0
dbSNP: rs386833739
rs386833739
CLN3
1 1.000 0.120 16 28482472 splice region variant C/T snv 0.700 0
dbSNP: rs386833741
rs386833741
CLN3
1 1.000 0.120 16 28482309 splice donor variant CCTCGCTCCTCTTACCAGCGGTATTGC/- delins 2.1E-05 0.700 0